Ben-Mahmoud A - Search Results

1

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

Gariballa N, Ben-Mahmoud A, Komara M, Al-Shamsi AM, John A, Ali BR, Al-Gazali L. Gariballa N, et al. Am J Med Genet A. 2017 May;173(5):1257-1263. doi: 10.1002/ajmg.a.38153. Epub 2017 Mar 21. Am J Med Genet A. 2017. PMID: 28322503

2

A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.

Ben-Mahmoud A, Ben-Salem S, Al-Sorkhy M, John A, Ali BR, Al-Gazali L. Ben-Mahmoud A, et al. Clin Genet. 2018 Jun;93(6):1148-1158. doi: 10.1111/cge.13236. Epub 2018 Mar 15. Clin Genet. 2018. PMID: 29443383

3

Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.

Ben-Mahmoud A, Al-Shamsi AM, Ali BR, Al-Gazali L. Ben-Mahmoud A, et al. J Mol Neurosci. 2020 Mar;70(3):320-327. doi: 10.1007/s12031-019-01415-8. J Mol Neurosci. 2020. PMID: 31721002

4

Identification of a novel m.9588G > a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men.

Baklouti-Gargouri S, Ghorbel M, Ben Mahmoud A, Mkaouar-Rebai E, Cherif M, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L. Baklouti-Gargouri S, et al. J Assist Reprod Genet. 2014 May;31(5):595-600. doi: 10.1007/s10815-014-0187-2. Epub 2014 Feb 19. J Assist Reprod Genet. 2014. PMID: 24550096 Free PMC article.

5

First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.

Ben Mahmoud A, Siala O, Mansour RB, Driss F, Baklouti-Gargouri S, Mkaouar-Rebai E, Belguith N, Fakhfakh F. Ben Mahmoud A, et al. Gene. 2013 Dec 10;532(1):13-7. doi: 10.1016/j.gene.2013.07.058. Epub 2013 Aug 14. Gene. 2013. PMID: 23954224

6

Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.

Lee YR, Kim SH, Ben-Mahmoud A, Kim OH, Choi TI, Lee KH, Ku B, Eum J, Kee Y, Lee S, Cha J, Won D, Lee ST, Choi JR, Lee JS, Kim HD, Kim HG, Bonkowsky JL, Kang HC, Kim CH. Lee YR, et al. Hum Mol Genet. 2021 Apr 27;30(5):331-342. doi: 10.1093/hmg/ddab033. Hum Mol Genet. 2021. PMID: 33517449

7

Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation.

Tabebi M, Charfi N, Kallabi F, Alila-Fersi O, Ben Mahmoud A, Tlili A, Keskes-Ammar L, Kamoun H, Abid M, Mnif M, Fakhfakh F. Tabebi M, et al. J Diabetes Complications. 2017 Jan;31(1):253-259. doi: 10.1016/j.jdiacomp.2016.06.028. Epub 2016 Jul 1. J Diabetes Complications. 2017. PMID: 27422531

8

Evaluation of the effect of c.2946+1G>T mutation on splicing in the SCN1A gene.

Ben Mahmoud A, Ben Mansour R, Driss F, Baklouti-Gargouri S, Siala O, Mkaouar-Rebai E, Fakhfakh F. Ben Mahmoud A, et al. Comput Biol Chem. 2015 Feb;54:44-8. doi: 10.1016/j.compbiolchem.2015.01.003. Epub 2015 Jan 5. Comput Biol Chem. 2015. PMID: 25590135

9

A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men.

Baklouti-Gargouri S, Ghorbel M, Ben Mahmoud A, Mkaouar-Rebai E, Cherif M, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L. Baklouti-Gargouri S, et al. Mol Reprod Dev. 2013 Jul;80(7):581-7. doi: 10.1002/mrd.22197. Epub 2013 Jun 17. Mol Reprod Dev. 2013. PMID: 23712756

10

A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.

Fendri-Kriaa N, Boujilbene S, Kammoun F, Mkaouar-Rebai E, Ben Mahmoud A, Hsairi I, Rebai A, Triki C, Fakhfakh F. Fendri-Kriaa N, et al. Biochem Biophys Res Commun. 2011 May 20;408(4):654-7. doi: 10.1016/j.bbrc.2011.04.079. Epub 2011 Apr 21. Biochem Biophys Res Commun. 2011. PMID: 21531204

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